Preferred test to diagnose or identify carriers of Tay Sachs disease, especially in individuals who are pregnant, use oral contraceptives, have severe liver or autoimmune disease, or had previously inconclusive Hexosaminidase A testing in plasma/serum.

Whole blood received greater than 3 days from collection. Grossly hemolyzed specimens.

Remarks

Clinical information is needed for appropriate interpretation. Additional required information includes age, gender, diet (e.g.TPN therapy), drug therapy, and family history. Biochemical Genetics Patient History Form is available on the ARUP Web site at http://www.aruplab.com/patienthistory or by contacting ARUP Client Services.

Stability

Ambient: 3 days; Refrigerated: 3 days; Frozen: Unacceptable

Reference Interval

Effective November 18, 2013

Greater than or equal to 63 percent

Interpretive Data

Refer to report.

Note

This test is used for the diagnosis of Tay-Sachs disease and can also be used to identify carriers for this disorder. Carrier screening is offered to individuals of Ashkenazi Jewish descent because of the high incidence of the disease in this population.

CPT Code(s)

83080

Components

Component Test Code*

Component Chart Name

LOINC

2008126

Hexosaminidase A Percent in Leukocytes

23825-3

2008127

Hexosaminidase Total, Leukocytes

50759-0

2008128

Hexosaminidase in Leukocytes Interp

21328-0

* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

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